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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-42114919-CAG-TAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42114919&ref=CAG&alt=TAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KAT2A",
"hgnc_id": 4201,
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001376227.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 837,
"aa_ref": "L",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021078.3",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000225916.10",
"protein_coding": true,
"protein_id": "NP_066564.2",
"strand": false,
"transcript": "NM_021078.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 837,
"aa_ref": "L",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000225916.10",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021078.3",
"protein_coding": true,
"protein_id": "ENSP00000225916.5",
"strand": false,
"transcript": "ENST00000225916.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 844,
"aa_ref": "L",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873177.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543236.1",
"strand": false,
"transcript": "ENST00000873177.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 841,
"aa_ref": "L",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2002,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873169.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.2002_2004delCTGinsGTA",
"hgvs_p": "p.Leu668Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543228.1",
"strand": false,
"transcript": "ENST00000873169.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 838,
"aa_ref": "L",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376227.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363156.1",
"strand": false,
"transcript": "NM_001376227.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 838,
"aa_ref": "L",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2517,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873170.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543229.1",
"strand": false,
"transcript": "ENST00000873170.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 835,
"aa_ref": "L",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 1993,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1984,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963388.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1984_1986delCTGinsGTA",
"hgvs_p": "p.Leu662Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633447.1",
"strand": false,
"transcript": "ENST00000963388.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 834,
"aa_ref": "L",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1990,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873176.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1990_1992delCTGinsGTA",
"hgvs_p": "p.Leu664Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543235.1",
"strand": false,
"transcript": "ENST00000873176.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 832,
"aa_ref": "L",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 1992,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963387.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1975_1977delCTGinsGTA",
"hgvs_p": "p.Leu659Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633446.1",
"strand": false,
"transcript": "ENST00000963387.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 829,
"aa_ref": "L",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1966,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873173.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1966_1968delCTGinsGTA",
"hgvs_p": "p.Leu656Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543232.1",
"strand": false,
"transcript": "ENST00000873173.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 826,
"aa_ref": "L",
"aa_start": 653,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1957,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873175.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1957_1959delCTGinsGTA",
"hgvs_p": "p.Leu653Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543234.1",
"strand": false,
"transcript": "ENST00000873175.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 811,
"aa_ref": "L",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915289.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1912_1914delCTGinsGTA",
"hgvs_p": "p.Leu638Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585348.1",
"strand": false,
"transcript": "ENST00000915289.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 807,
"aa_ref": "L",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873172.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1900_1902delCTGinsGTA",
"hgvs_p": "p.Leu634Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543231.1",
"strand": false,
"transcript": "ENST00000873172.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 800,
"aa_ref": "L",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 2403,
"cds_start": 1879,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873174.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1879_1881delCTGinsGTA",
"hgvs_p": "p.Leu627Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543233.1",
"strand": false,
"transcript": "ENST00000873174.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 788,
"aa_ref": "L",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2973,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 2367,
"cds_start": 1843,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000873171.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.1843_1845delCTGinsGTA",
"hgvs_p": "p.Leu615Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543230.1",
"strand": false,
"transcript": "ENST00000873171.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 477,
"aa_ref": "L",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1434,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006721818.5",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "c.907_909delCTGinsGTA",
"hgvs_p": "p.Leu303Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721881.1",
"strand": false,
"transcript": "XM_006721818.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000465682.5",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "n.*1104_*1106delCTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468390.1",
"strand": false,
"transcript": "ENST00000465682.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2990,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000465682.5",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "n.*1104_*1106delCTGinsGTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468390.1",
"strand": false,
"transcript": "ENST00000465682.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 404,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588759.1",
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"hgvs_c": "n.193+33_193+35delCTGinsGTA",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467324.1",
"strand": false,
"transcript": "ENST00000588759.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4201,
"gene_symbol": "KAT2A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"pos": 42114919,
"ref": "CAG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001376227.1"
}
]
}